{
    "disease_id": "DOID:0090127",
    "recommended_name": {
        "id": "DOID:0090127",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090127",
        "name": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
        "description": "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31."
    },
    "synonyms": [
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "CACP",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "CACP syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "CAP syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "Jacobs syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "PAC syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "arthropathy-camptodactyly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "camptodactyly-arthropathy-pericarditis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "congenital familial hypertrophic synovitis",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "familial fibrosing serositis",
            "description": ""
        },
        {
            "id": "DOID:0090127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "name": "pericarditis-arthropathy-camptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
            "description": "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis."
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "CACP",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "CACP syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "Jacobs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "PAC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "arthropathy-camptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "camptodactyly-arthropathy-pericarditis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "pericarditis-arthropathy-camptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "arthropathy camptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "camptodactyly arthropathy coxa vara pericarditis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "camptodactyly arthropathy pericarditis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "fibrosing serositis, familial",
            "description": ""
        },
        {
            "id": "MONDO:0008828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "name": "pericarditis arthropathy camptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MIM:208250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208250",
            "name": "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
            "description": "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090127"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090127",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090127",
            "categories": []
        },
        {
            "id": "MONDO:0008828",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008828",
            "categories": []
        },
        {
            "id": "MIM:208250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PHS8-1",
            "uniprot_ac": "A0A8M1PHS8",
            "uniprot_id": "A0A8M1PHS8_DANRE",
            "refseq_ac": "NP_997918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteoglycan 4a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Proteoglycan 4a precursor",
                    "type": "synonym"
                },
                {
                    "name": "articular superficial zone protein",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan 4a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prg4a",
                    "type": "recommended"
                },
                {
                    "name": "CH1073-202I11.1",
                    "type": "synonym"
                },
                {
                    "name": "fb08a02",
                    "type": "synonym"
                },
                {
                    "name": "prg4a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb08a02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk21a06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56698",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PHS8-1",
            "evidence": [
                {
                    "id": "0090127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58I2W8-1",
            "uniprot_ac": "A0AC58I2W8",
            "uniprot_id": "A0AC58I2W8_DANRE",
            "refseq_ac": "XP_073788577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteoglycan 4b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan 4b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prg4b",
                    "type": "recommended"
                },
                {
                    "name": "prg4b",
                    "type": "synonym"
                },
                {
                    "name": "prg4",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-97o5.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:122988",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I2W8-1",
            "evidence": [
                {
                    "id": "0090127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JM99-1",
            "uniprot_ac": "Q9JM99",
            "uniprot_id": "PRG4_MOUSE",
            "refseq_ac": "NP_001103616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteoglycan 4",
                    "type": "recommended"
                },
                {
                    "name": "Lubricin",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocyte-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "Superficial zone proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan 3",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan 4 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "superficial zone proteoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prg4",
                    "type": "recommended"
                },
                {
                    "name": "CACP",
                    "type": "synonym"
                },
                {
                    "name": "DOL54",
                    "type": "synonym"
                },
                {
                    "name": "JCAP",
                    "type": "synonym"
                },
                {
                    "name": "MSF",
                    "type": "synonym"
                },
                {
                    "name": "Msf",
                    "type": "synonym"
                },
                {
                    "name": "Prg4",
                    "type": "synonym"
                },
                {
                    "name": "SZP",
                    "type": "synonym"
                },
                {
                    "name": "Szp",
                    "type": "synonym"
                },
                {
                    "name": "lubricin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM99-1",
            "evidence": [
                {
                    "id": "0090127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92954-1",
            "uniprot_ac": "Q92954",
            "uniprot_id": "PRG4_HUMAN",
            "refseq_ac": "NP_001121180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteoglycan 4",
                    "type": "recommended"
                },
                {
                    "name": "Lubricin",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocyte-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "Superficial zone proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "articular superficial zone protein",
                    "type": "synonym"
                },
                {
                    "name": "hemangiopoietin",
                    "type": "synonym"
                },
                {
                    "name": "lubricin",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan 4 isoform B preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "superficial zone proteoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRG4",
                    "type": "recommended"
                },
                {
                    "name": "CACP",
                    "type": "synonym"
                },
                {
                    "name": "HAPO",
                    "type": "synonym"
                },
                {
                    "name": "JCAP",
                    "type": "synonym"
                },
                {
                    "name": "MSF",
                    "type": "synonym"
                },
                {
                    "name": "PRG4",
                    "type": "synonym"
                },
                {
                    "name": "SZP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92954-1",
            "evidence": [
                {
                    "id": "208250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208250"
                },
                {
                    "id": "0090127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LRA5-1",
            "uniprot_ac": "F1LRA5",
            "uniprot_id": "F1LRA5_RAT",
            "refseq_ac": "NP_001099432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteoglycan 4",
                    "type": "synonym"
                },
                {
                    "name": "lubricin",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prg4",
                    "type": "recommended"
                },
                {
                    "name": "Prg4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LRA5-1",
            "evidence": [
                {
                    "id": "0090127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090127"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090127"
}